Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Abstract Background Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in definin...

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Bibliographic Details
Main Authors: Hanan E. Shamseldin, Lama AlAbdi, Sateesh Maddirevula, Hessa S. Alsaif, Fatema Alzahrani, Nour Ewida, Mais Hashem, Firdous Abdulwahab, Omar Abuyousef, Hiroyuki Kuwahara, Xin Gao, Molecular Autopsy Consortium, Fowzan S. Alkuraya
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Genome Medicine
Subjects:
EHBP1L1
BMPR1A
MSN
FAAH2
Embryonic lethal
founder
Online Access:https://doi.org/10.1186/s13073-021-00973-0

Internet

https://doi.org/10.1186/s13073-021-00973-0

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